Canonical Allele Identifier: CA2570260356

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592386_117592387insGTATAGAGTTGATTGGATTG , CM000669.2:g.117592386_117592387insGTATAGAGTTGATTGGATTG	GRCh38
NC_000007.13:g.117232440_117232441insGTATAGAGTTGATTGGATTG , CM000669.1:g.117232440_117232441insGTATAGAGTTGATTGGATTG	GRCh37
NC_000007.12:g.117019676_117019677insGTATAGAGTTGATTGGATTG	NCBI36
NG_016465.4:g.131603_131604insGTATAGAGTTGATTGGATTG , LRG_663:g.131603_131604insGTATAGAGTTGATTGGATTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2219_2220insGTATAGAGTTGATTGGATTG	ENSP00000497673.2:p.Asp741TyrfsTer21
ENST00000647978.2:c.*1933_*1934insGTATAGAGTTGATTGGATTG	ENSP00000497658.1:n.*1933_*1934insGTATAGAGTTGATTGGATTG
ENST00000649781.2:c.2036_2037insGTATAGAGTTGATTGGATTG	ENSP00000497203.1:p.Asp680TyrfsTer21
ENST00000685018.2:c.2219_2220insGTATAGAGTTGATTGGATTG	ENSP00000510194.2:p.Asp741TyrfsTer21
ENST00000687278.2:c.2219_2220insGTATAGAGTTGATTGGATTG	ENSP00000509593.2:p.Asp741TyrfsTer21
ENST00000699585.1:c.2219_2220insGTATAGAGTTGATTGGATTG	ENSP00000514456.1:p.Asp741TyrfsTer21
ENST00000699598.1:c.2219_2220insGTATAGAGTTGATTGGATTG	ENSP00000514467.1:p.Asp741TyrfsTer21
ENST00000699599.1:c.2219_2220insGTATAGAGTTGATTGGATTG	ENSP00000514468.1:p.Asp741TyrfsTer21
ENST00000699600.1:c.2219_2220insGTATAGAGTTGATTGGATTG	ENSP00000514469.1:p.Asp741TyrfsTer21
ENST00000699601.1:c.*519_*520insGTATAGAGTTGATTGGATTG	ENSP00000514470.1:n.*519_*520insGTATAGAGTTGATTGGATTG
ENST00000699602.1:c.2219_2220insGTATAGAGTTGATTGGATTG	ENSP00000514471.1:p.Asp741TyrfsTer21
ENST00000699604.1:c.*2043_*2044insGTATAGAGTTGATTGGATTG	ENSP00000514472.1:n.*2043_*2044insGTATAGAGTTGATTGGATTG
ENST00000699605.1:c.1793_1794insGTATAGAGTTGATTGGATTG	ENSP00000514473.1:p.Asp599TyrfsTer21
ENST00000003084.11:c.2219_2220insGTATAGAGTTGATTGGATTG MANE Select	ENSP00000003084.6:p.Asp741TyrfsTer21
ENST00000647978.1:c.*1933_*1934insGTATAGAGTTGATTGGATTG	ENSP00000497658.1:n.*1933_*1934insGTATAGAGTTGATTGGATTG
ENST00000648260.1:c.1402-10440_1402-10439insGTATAGAGTTGATTGGATTG	ENSP00000497957.1:n.1402-10440_1402-10439insGTATAGAGTTGATTGGA...
ENST00000649406.1:c.2036_2037insGTATAGAGTTGATTGGATTG	ENSP00000497965.1:p.Asp680TyrfsTer21
ENST00000649781.1:c.2036_2037insGTATAGAGTTGATTGGATTG	ENSP00000497203.1:p.Asp680TyrfsTer21
ENST00000003084.10:c.2219_2220insGTATAGAGTTGATTGGATTG	ENSP00000003084.6:p.Asp741TyrfsTer21
ENST00000426809.5:c.2129_2130insGTATAGAGTTGATTGGATTG	ENSP00000389119.1:p.Asp711TyrfsTer21
NM_000492.3:c.2219_2220insGTATAGAGTTGATTGGATTG , LRG_663t1:c.2219_2220insGTATAGAGTTGATTGGATTG	NP_000483.3:p.Asp741TyrfsTer21
XM_011515751.1:c.2309_2310insGTATAGAGTTGATTGGATTG	XP_011514053.1:p.Asp771TyrfsTer21
XM_011515752.1:c.2309_2310insGTATAGAGTTGATTGGATTG	XP_011514054.1:p.Asp771TyrfsTer21
XM_011515753.1:c.1976_1977insGTATAGAGTTGATTGGATTG	XP_011514055.1:p.Asp660TyrfsTer21
XM_011515754.1:c.1976_1977insGTATAGAGTTGATTGGATTG	XP_011514056.1:p.Asp660TyrfsTer21
NM_000492.4:c.2219_2220insGTATAGAGTTGATTGGATTG MANE Select	NP_000483.3:p.Asp741TyrfsTer21